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<p>Primary neuroendocrine carcinomas of the vulva are rare and poorly characterised. We report a case of small cell neuroendocrine carcinoma in a 90-year-old woman, associated with differentiated vulvar intraepithelial neoplasia and superficially invasive squamous cell carcinoma. Immunohistochemistry confirmed neuroendocrine differentiation and excluded Merkel cell carcinoma. Next-generation sequencing performed on both the intraepithelial and neuroendocrine components identified identical pathogenic mutations in <i>TP53</i> and <i>CDKN2A</i>, supporting a clonal relationship. Loss of RB1 expression was observed across all tumor components. HPV testing was negative. These findings support the hypothesis of stepwise tumor progression from a squamous precursor with <i>RB1</i> and <i>TP53</i> alterations, suggesting a mechanism for neuroendocrine transdifferentiation.</p>

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Vulvar small cell neuroendocrine carcinoma arising from differentiated vulvar intraepithelial neoplasia: evidence of a clonal relationship by mutation analysis

  • 期刊论文

  • 发表日期：

    2026年5月26日

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  • Nejla Gümüs,
  • Martine Dehandschutter,
  • Nicky D’Haene,
  • Jean-Christophe Noël

摘要

Primary neuroendocrine carcinomas of the vulva are rare and poorly characterised. We report a case of small cell neuroendocrine carcinoma in a 90-year-old woman, associated with differentiated vulvar intraepithelial neoplasia and superficially invasive squamous cell carcinoma. Immunohistochemistry confirmed neuroendocrine differentiation and excluded Merkel cell carcinoma. Next-generation sequencing performed on both the intraepithelial and neuroendocrine components identified identical pathogenic mutations in TP53 and CDKN2A, supporting a clonal relationship. Loss of RB1 expression was observed across all tumor components. HPV testing was negative. These findings support the hypothesis of stepwise tumor progression from a squamous precursor with RB1 and TP53 alterations, suggesting a mechanism for neuroendocrine transdifferentiation.